| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941939C>T | CA117836 | SCN4A | c.4343G>A (p.Arg1448His) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63941939C>G | CA350900 | SCN4A | c.4343G>C (p.Arg1448Pro) | ClinVar dbSNP |
| 17 | g.63941939C>A | CA400616189 | SCN4A | c.4343G>T (p.Arg1448Leu) | ClinVar dbSNP |
| 17 | g.63941939C= | CA2270161187 | SCN4A | c.4343G= (p.Arg1448=) | dbSNP |